Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21023557C= , CM000664.2:g.21023557C= | GRCh38 |
| NC_000002.11:g.21246429C= , CM000664.1:g.21246429C= | GRCh37 |
| NC_000002.10:g.21099934C= | NCBI36 |
| NG_011793.1:g.25517G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*1878G= | ENSP00000501110.2:n.*1878G= | |
| ENST00000673882.2:c.*1878G= | ENSP00000501253.2:n.*1878G= | |
| ENST00000673739.1:c.2286G= | ENSP00000501110.1:n.2286G= | |
| ENST00000673882.1:c.2286G= | ENSP00000501253.1:n.2286G= | |
| ENST00000233242.5:c.2572G= MANE Select | ENSP00000233242.1:p.Ala858= | |
| ENST00000616098.4:c.2572G= | ENSP00000477990.1:p.Ala858= | |
| NM_000384.2:c.2572G= | NP_000375.2:p.Ala858= | |
| XM_011532809.1:c.2572G= | XP_011531111.1:p.Ala858= | |
| NM_000384.3:c.2572G= MANE Select | NP_000375.3:p.Ala858= |